Submissions for variant NM_001715.3(BLK):c.258G>A (p.Gln86=)

gnomAD frequency: 0.02041  dbSNP: rs56185487

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116497	SCV000308019	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000340113	SCV000471331	benign	Maturity-onset diabetes of the young type 11	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000956560	SCV001103328	benign	not provided	2024-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000956560	SCV001946190	benign	not provided	2018-08-17	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002464111	SCV002605352	benign	Systemic lupus erythematosus		criteria provided, single submitter	research	BLK gene is associated with Systemic lupus erythematosus, sjogren's syndrome and other systemic inflammatory conditions. However no sufficient evidence is found to ascertain the role of this particular variant rs56185487, yet.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000340113	SCV004564042	benign	Maturity-onset diabetes of the young type 11	2023-08-24	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000956560	SCV005272366	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116497	SCV000150439	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.